4.2 Article

Proteomic study of the impact of the JAK2-V617F mutation on the phenotype of essential thrombocythemia

Journal

EXPERIMENTAL HEMATOLOGY
Volume 36, Issue 12, Pages 1642-1647

Publisher

ELSEVIER SCIENCE INC
DOI: 10.1016/j.exphem.2008.07.013

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Funding

  1. Direction de la recherche clinique, CHU Grenoble

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Objective. Previous studies have suggested that two subtypes of essential thrombocythemia (ET) could be separated on the basis of their JAK2 status (V617F-positive or V617F-negative), with a continuum between V617F-positive ET and polycythemia vera (PV). Nevertheless, increasingly contradictory data on the impact of JAK2-V617F (presence and load) on ET phenotype highlight the need for further investigations. Materials and Methods. We investigated the influence of JAK2-V617F on ET phenotype using mass spectrometry - based analysis of serum protein profiles of ET patients, comparatively with PV patients. Results. V617F-positive ET and PV displayed significant differences in their serum protein profiles. Furthermore, JAK2-V617F presence did not impact significantly the serum proteome of ET patients: we observed very few differences in serum protein profiles of V617F-positive and -negative ET. Reciprocally, clustering of ET patients on the basis of their serum protein profiles did not correlate with JAK2-V617F presence. Finally, the JAK2-V617F load did not influence serum apolipoprotein A-1 levels in ET, a previously validated marker of JAK2-V617F allele burden in PV. Conclusion. Serum proteome of ET patients was not influenced by the presence of JAK2-V617F or by high V617F allelic ratio (up to 50%) suggesting that ET phenotype is, at best, only partially influenced by the JAK2-V617F mutation. (C) 2008 ISEH - Society for Hematology and Stem Cells. Published by Elsevier Inc.

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